K32Q (p.Lys32Gln) variant of ATP7A (Copper-transporting ATPase 1)
K32Q (p.Lys32Gln) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair syndrome; Cuti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K32Q (p.Lys32Gln) variant details
- p.Lys32Gln
- rs2077548318
- ClinGen CA413597814
- ClinVar RCV001218714
- ClinVar RCV001828738
- Uncertain significance
- X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair syndrome; Cuti
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.31
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Uncertain significance (X-linked distal spinal muscular atrophy type 3; Menkes kinky-hai)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)